M20V (p.Met20Val) variant of ACTN2 (Alpha-actinin-2)
M20V (p.Met20Val) in ACTN2 (Alpha-actinin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Cardiovascular phenotype; Dilated cardiomyopathy 1AA; Primary familial hypertrop. The available variant effect predictions contribute to a CATVariant prioritization score of 0.41 / 1. The record also includes population frequency data, published literature, and structural context.
M20V (p.Met20Val) variant details
- p.Met20Val
- rs1203291298
- ClinGen CA345358241
- ClinVar RCV002355676
- ClinVar RCV006559079
- Uncertain significance
- Cardiovascular phenotype; Dilated cardiomyopathy 1AA; Primary familial hypertrop
- Missense
- Variant Prioritization Score for Impact Estimate 0.408
- REVEL 0.28
- CADD 23.10
- PolyPhen-2 0.27
- SIFT 0.08
- ClinVar: Uncertain significance (Cardiovascular phenotype; Dilated cardiomyopathy 1AA; Primary fa)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)
- Cited in: American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic… (PMID 14607462)